Gillespie syndrome   253176002

SNOMED CT code


SNOMED code253176002
nameGillespie syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Gillespie syndrome (disorder)
synonyms
  • Gillespie syndrome
  • Aniridia, cerebellar ataxia, intellectual disability syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteIris structure   41296002
Associated morphologyAbsence   418560003
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group2
OccurrenceCongenital   255399007
Finding siteCerebellar structure   113305005
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Gillespie syndrome   253176002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of eye   371405004
          Disorder of anterior segment of eye   128535002
            Congenital anomaly of anterior segment of eye   429448005
              Congenital anomaly of iris   128985003
                Congenital aniridia   69278003
                  Gillespie syndrome   253176002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Gillespie syndrome   253176002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Gillespie syndrome   253176002

ancestors
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